COSMIC:
COSM3754676 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50577888 (AMR)
Genomes Max Group AF
0.4331002 (AMR)
Exomes Max Group AF
0.52834023 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.15036113A>G , CM000678.2:g.15036113A>G | GRCh38 |
| NC_000016.9:g.15129970A>G , CM000678.1:g.15129970A>G | GRCh37 |
| NC_000016.8:g.15037471A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396410.9:c.2205A>G MANE Select | ENSP00000379691.4:p.Leu735= | |
| ENST00000396410.8:c.2205A>G | ENSP00000379691.4:p.Leu735= | |
| ENST00000450288.3:c.1932A>G | ENSP00000391147.3:p.Leu644= | |
| ENST00000535621.6:c.1399+6057A>G | ENSP00000437835.2:n.1399+6057A>G | |
| ENST00000562119.5:c.*494A>G | ENSP00000455486.1:n.*494A>G | |
| ENST00000563679.5:c.2259A>G | ENSP00000454791.1:p.Leu753= | |
| ENST00000569715.5:c.2124A>G | ENSP00000455070.1:p.Leu708= | |
| ENST00000570001.5:n.3254A>G | ||
| ENST00000627450.2:c.2121A>G | ENSP00000486662.1:p.Leu707= | |
| NM_001285444.1:c.2124A>G | NP_001272373.1:p.Leu708= | |
| NM_001285445.1:c.2121A>G | NP_001272374.1:p.Leu707= | |
| NM_001285447.1:c.2160A>G | NP_001272376.1:p.Leu720= | |
| NM_001285448.1:c.1932A>G | NP_001272377.1:p.Leu644= | |
| NM_001285449.1:c.1399+6057A>G | NP_001272378.1:n.1399+6057A>G | |
| NM_015027.3:c.2205A>G | NP_055842.2:p.Leu735= | |
| XM_005255173.1:c.2259A>G | XP_005255230.1:p.Leu753= | |
| XM_005255176.2:c.2160A>G | XP_005255233.1:p.Leu720= | |
| XM_006720865.2:c.2079A>G | XP_006720928.2:p.Leu693= | |
| NM_001324019.1:c.2202A>G | NP_001310948.1:p.Leu734= | |
| NM_001324020.1:c.1396+6057A>G | NP_001310949.1:n.1396+6057A>G | |
| NM_001324021.1:c.1318+6057A>G | NP_001310950.1:n.1318+6057A>G | |
| XM_005255176.3:c.2160A>G | XP_005255233.1:p.Leu720= | |
| XM_017023059.1:c.2160A>G | XP_016878548.1:p.Leu720= | |
| XM_017023060.1:c.2232A>G | XP_016878549.1:p.Leu744= | |
| XM_017023061.2:c.2160A>G | XP_016878550.1:p.Leu720= | |
| XM_017023062.1:c.2160A>G | XP_016878551.1:p.Leu720= | |
| XM_017023063.1:c.*98A>G | XP_016878552.1:n.*98A>G | |
| XM_017023064.1:c.2079A>G | XP_016878553.1:p.Leu693= | |
| XM_017023065.1:c.1354+6057A>G | XP_016878554.1:n.1354+6057A>G | |
| XM_024450194.1:c.1354+6057A>G | XP_024305962.1:n.1354+6057A>G | |
| XM_024450195.1:c.1453+6057A>G | XP_024305963.1:n.1453+6057A>G | |
| XM_024450196.1:c.1426+6057A>G | XP_024305964.1:n.1426+6057A>G | |
| XM_024450197.1:c.1273+6057A>G | XP_024305965.1:n.1273+6057A>G | |
| NM_001285444.2:c.2124A>G | NP_001272373.1:p.Leu708= | |
| NM_001285445.2:c.2121A>G | NP_001272374.1:p.Leu707= | |
| NM_001324019.2:c.2202A>G | NP_001310948.1:p.Leu734= | |
| NM_015027.4:c.2205A>G MANE Select | NP_055842.2:p.Leu735= | |
| NM_001285449.2:c.1399+6057A>G | NP_001272378.1:n.1399+6057A>G | |
| NM_001324020.2:c.1396+6057A>G | NP_001310949.1:n.1396+6057A>G | |
| NM_001324021.2:c.1318+6057A>G | NP_001310950.1:n.1318+6057A>G |